Detalhe da pesquisa
1.
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients.
Hum Mutat
; 43(12): e24-e37, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36177613
2.
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.
Hum Genet
; 141(1): 101-126, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34853893
3.
Residual risk for additional recessive diseases in consanguineous couples.
Genet Med
; 23(12): 2448-2454, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34316023
4.
The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.
Am J Med Genet A
; 185(8): 2455-2463, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33963797
5.
Genotype-phenotype correlation of 33 patients with maple syrup urine disease.
Am J Med Genet A
; 182(11): 2486-2500, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32812330
6.
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Am J Med Genet B Neuropsychiatr Genet
; 183(3): 172-180, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31854501
7.
Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.
Pediatr Nephrol
; 34(9): 1615-1623, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079206
8.
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.
Proc Natl Acad Sci U S A
; 113(21): 5993-8, 2016 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27162350
9.
Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report.
BMC Med Genet
; 19(1): 18, 2018 01 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-29378527
10.
Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.
Am J Med Genet A
; 176(12): 2850-2857, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30345601
11.
SLC5A1 Mutations in Saudi Arabian Patients With Congenital Glucose-Galactose Malabsorption.
J Pediatr Gastroenterol Nutr
; 66(2): 250-252, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28753187
12.
Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss.
BMC Endocr Disord
; 17(1): 17, 2017 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-28302169
13.
Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden.
Genet Med
; 18(12): 1244-1249, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27124789
14.
Variation in DNAH1 may contribute to primary ciliary dyskinesia.
BMC Med Genet
; 16: 14, 2015 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-25927852
15.
Tracheobronchial anomalies in a patient with Schimke immuno-osseous dysplasia (SIOD).
Am J Med Genet A
; 167A(2): 434-7, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25428399
16.
Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.
Eur J Pediatr
; 173(5): 647-53, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24326380
17.
Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia.
Genet Test Mol Biomarkers
; 27(5): 142-148, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37257178
18.
Wild-type S100A3 and S100A13 restore calcium homeostasis and mitigate mitochondrial dysregulation in pulmonary fibrosis patient-derived cells.
Front Cell Dev Biol
; 11: 1282868, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38099297
19.
Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
Nat Med
; 29(3): 679-688, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36928819
20.
Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity.
Genet Med
; 14(5): 515-9, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22241088